Hemophilia Archives - Sanford Burnham Prebys

Tag: Hemophilia

Institute News

Randal Kaufman included in $12 million initiative to improve hemophilia treatment

AuthorMiles Martin
Date

March 8, 2022

Randal J. Kaufman, PhD

The new project will help researchers better understanding why current gene therapy treatments aren’t working.

A multi-institute research collaboration including Sanford Burnham Prebys has just received a $12 million grant from the National Heart, Lung, and Blood Institute to improve hemophilia therapy. The award will fund three projects that could lead to safer and potentially curative treatments for the disorder. One of these projects will be led by Randal J. Kaufman, PhD, who directs the Degenerative Diseases Program at Sanford Burnham Prebys.

How viruses could be help treat hemophilia
Hemophilia is an X-linked genetic condition that prevents the blood from clotting properly. It occurs in about one out of 5,000 male births. In patients with severe forms of the disease, internal or external bleeding can be life threatening. Standard treatments for severe hemophilia involve intravenously replacing the clotting proteins that patients are unable to produce adequately on their own. However, a gene therapy approach uses viruses as a delivery mechanism to provide the body with the information it needs to start making its own clotting factors.

“Several companies have taken this forward into clinical trials, and in some of these trials, the patients initially looked like they were cured,” says principal investigator Roland W. Herzog, PhD, the Riley Children’s Foundation Professor of Immunology at Indiana University School of Medicine. “But what they all have in common is that they need to deliver a lot of the virus in order to get the desired results, and over time, clotting factor levels started to decline. So it’s clear that we need to further study the biology of this phenomenon.”

How this grant will help improve the process
In hemophilia A, which accounts for about 80% of all cases, patients do not produce enough of a clotting protein called factor VIII (FVIII). To better understand the mechanisms that are mitigating the effects of current drug candidates, Herzog is teaming up with some of the nation’s leading experts. 

Their program will focus on three major projects in gene therapy for hemophilia A:

  • Project 1 will focus on cellular toxicity and stress that can be induced by FVIII protein production. This project is led by Kaufman. 
  • Project 2 will focus on molecular virology and the development of viral vectors used in gene therapy to deliver the FVIII-encoding gene.This project is led by Indiana University School of Medicine professor of pediatrics Weidong Xiao, PhD
  • Project 3 will examine the immune system and its role in the interference of FVIII production over time. It is jointly led by Herzog and Ype P. de Jong, MD, PhD, assistant professor of medicine at Cornell University. 

Together, they hope to provide new insight that can lead to lower levels of toxicity and improved longevity of FVIII production in patients who are treated with gene therapy for hemophilia.

“This is an incredibly significant and urgent medical question, and it requires the synergy of multiple groups with different expertise to come together and solve a problem that they wouldn’t be able to solve on their own,” says Herzog. “My hope is that our studies will help the field as a whole move toward curing hemophilia A.”

The grant is titled “Toward Safer Gene Therapy for Hemophilia A” (P01HL160472). This post was adapted from a press release published by Indiana University School of Medicine.

Institute News

Dr. Randal Kaufman, one of the world’s most influential scientific minds

Authorsgammon
Date

July 18, 2014

Header image

Last week, Thomson Reuters published a list of the world’s most influential scientific minds—195 of them in biology and biochemistry to be exact. Thomson Reuters created the list based on scientists that write the most reports that rank among the top 1 percent cited by other scientists between the years 2002 and 2012. To no surprise from us at Sanford–Burnham, Randal Kaufman, PhD, professor and director of the Degenerative Disease Program, was on the list.

Dr. Kaufman has been a major contributor to our understanding of how protein folding—and misfolding—lead to cell malfunctions and death. His research is particularly important to many diseases, including neurological, metabolic, genetic and inflammatory disorders. His research also explains some of the symptoms associated with aging.

Dr. Kaufman has a long history of contributions to science in industry and academia. As PhDgraduate student at Stanford University, he discovered that cancer cells develop drug resistance by gene amplification. As a post-doctoral fellow working with Nobel laureate Dr. Phillip Sharp at MIT, he studied gene amplification and new ways to express proteins in mammalian cells.

After post-doctoral work, Dr. Kaufman co-founded a company called the Genetics Institute Inc., a biotechnology company focused on treatments for hemophilia and many other disorders, including the development of technology that led to the FDA-approved drugs for hemophilia and erythropoietin for cancer and anemia.  After leaving the Genetics Institute, Inc. he took a position as HHMI investigator and endowed chair in the departments of Biological Chemistry and Internal Medicine at the University of Michigan.  He joined us at Sanford-Burnham in 2011 where he leads the Degenerative Disease Program.

Let us all take advantage of the fact that we have this incredible individual at our Institute and discover five interesting facts about the man with the brilliant brain.

If you could invite 5 people to dinner who would they be?Albert Einstein, Steve Jobs, Charles Darwin, Princess Diana and Brian Williams

What traits do  you most admire in people?Intelligence, confidence, and a sense of humor

What traits do you most deplore in people? Laziness, conceit and selfishness

What is your idea of a perfect weekend in San Diego? Sailing with my wife, Donna and three boys, Joshua, Kyle, and Maverick

If a genie granted you three wishes, what would they be? World peace, a cure for cancer, and unlimited NIH support for my research

From all of us at Sanford-Burnham, we congratulate you Dr. Kaufman and we hope your wishes come true!